Developmental Brain Disorder Gene Database
LoF Variant Gene
Gene
Search
Tier
1
- Unique Cases:
- 12
- Disorders:
- ID, ASD, EP, ADHD
- Last Updated:
- January 24, 2024
Gene Summary:
- DBD Genes Classification
- HIVEP2 is a High Confidence candidate gene classified as Tier 1. Tier 1 genes have three or more de novo pathogenic loss-of-function variants.
- Gene Function
- This protein specifically binds to the DNA sequence 5'- GGGACTTTCC-3' which is found in the enhancer elements of numerous viral promoters such as those of SV40, CMV, or HIV1. In addition, related sequences are found in the enhancer elements of a number of cellular promoters, including those of the class I MHC, interleukin-2 receptor, somatostatin receptor II, and interferon-beta genes. It may act in T- cell activation. (Source: Uniprot)
- Previous symbols
- No previous symbols
- Alias symbols
- MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B
- Chromosomal Location
- 6q24.2
- Genomic Coordinates
- GRCh37:chr6:143072604-143266338
- GRCh38:chr6:142751469-142945756
- Associated Disorders
- Intellectual Disability, Autism, Epilepsy, Attention Deficit Hyperactivity Disorder
Cases:
Publications:
Steinfeld H et. al., Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features., Neurogenetics, 2016 |
Srivastava S et. al., Loss-of-function variants in HIVEP2 are a cause of intellectual disability., Eur J Hum Genet, 2016 |
Park J et. al., Novel HIVEP2 Variants in Patients with Intellectual Disability., Mol Syndromol, 2019 |
Jain A et. al., Novel HIVEP2 Variant p.Q1248* is Associated with Developmental Delay: A Case Report., J Pediatr Genet, 2019 |
Coe BP et. al., Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity., Nat Genet, 2019 |
External References:
![Medgen](https://dbd.geisingeradmi.org/external-resources/medgen.png)
NCBI: Gene
Integrates information from a wide range of species. A record may include nomenclature, Reference Sequences (RefSeqs), maps, pathways, variations, phenotypes, and links to genome-, phenotype-, and locus-specific resources worldwide.
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Gene Reviews
An international point-of-care resource for busy clinicians, provides clinically relevant and medically actionable information for inherited conditions in a standardized journal-style format, covering diagnosis, management, and genetic counseling for patients and their families.
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DECIPHER
DECIPHER (DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources) is an interactive web-based database which incorporates a suite of tools designed to aid the interpretation of genomic variants.
DECIPHER enhances clinical diagnosis by retrieving information from a variety of bioinformatics resources relevant to the variant found in the patient.
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SFARI
SFARI Gene is an evolving online database designed to permit quick entrée into the genetics of autism, and to help researchers track the ever-expanding genetic risk factors that emerge in the literature.
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ClinGen
ClinGen is a National Institutes of Health (NIH)-funded resource dedicated to building an authoritative central resource that defines the clinical relevance of genes and variants for use in precision medicine and research.
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GenCC
The GenCC DB provides information pertaining to the validity of gene-disease relationships, with a current focus on Mendelian diseases.
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gnomAD
The Genome Aggregation Database (gnomAD) is a resource developed by an international coalition of investigators, with the goal of aggregating and harmonizing both exome and genome sequencing data from a wide variety of large-scale sequencing projects, and making summary data available for the wider scientific community.